List of variants in gene MYH7 studied for Myopathy, myosin storage, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.-9+23T>C	rs2239578	0.51695
NM_000257.4(MYH7):c.189C>T (p.Thr63=)	rs2069540	0.51584
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)	rs45511396	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	rs121913627	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	rs760187215	0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	rs121913652	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	rs397516171
NM_000257.4(MYH7):c.345+1G>A	rs112907315
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)	rs145734640
NM_000257.4(MYH7):c.5503G>C (p.Glu1835Gln)	rs758436258
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)	rs878853840
NM_000257.4(MYH7):c.732+1del	rs397516266
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)	rs730880852

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.